Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162275 (ketonuria)
 553 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3-yr-old boy was investigated for numerous episodes of fatigue, irritability, pallor, and sweating, which began at 11 mo of age, when he had an episode of symptomatic hypoglycemia with ketonuria. He had euphoria, mental confusion, drowsiness, nausea, and vomiting 1-5 hr after oral administration of glycerol in doses of 0.5-1.0gm/kg. Orally administered MCT (1 gm/kg) had similar effects. On one occasion, oral glycerol also provoked hypoglycemia, as had a 16 1/2 hr fast. Intravenously administered glycerol (0.09 gm/kg) induced an immediate loss of consciousness from which he recovered spontaneously after 30 min; there were no changes in blood glucose values. Intravenously administered fructose (0.25 gm/kg) was tolerated normally. Leukocytes showed normal activities for FDPase, glycerol kinase, and glycerol phosphate dehydrogenase. The restriction of dietary intake of fat has been associated with a marked improvement in physical and mental activities. These observations suggest a unique, yet undifined intolerance to glycerol, which suggest caution in the diagnostic use of glycerol in the investigation of hypoglycemia as well as in the therapy of increased intracranial or intraocular pressure.
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PMID:Glycerol intolerance in a child with intermittent hypoglycemia. 16 54

Acetoacetic acid is oxidized independent of carnitine transport into the cell mitochondria and its monoglyceride is a water soluble compound. The latter was examined as an intravenous nutrient. The monoglyceride of acetoacetic acid was prepared from the acid anhydride, diketene, and glycerol and was found to be totally miscible with water. The nutritional properties of monoacetoacetin were investigated by continuous intravenous infusion of 25 or 50 g/kg body weight per day into ad libitum fed rats. The response of these animals was compared to normal and food restricted rats. All experimental animals survived the 7 day study period in good health and were free of detectable physiological and behavioral abnormalities. The test rats demonstrated weight gain dependent on the infusion rate while on an inadequate spontaneous oral food intake diet. Ketonuria, hyperketonemia and monoglyceride excretion in the urine accompanied the infusion of monoacetoacetin and were dependent on the infusion load. At 50 g/kg per day total plasma ketones were found to be comparable with the infusion load. At 50 g/kg per day total plasma ketones were found to be comparable with the maximum level obtained in fasted rats, but the acetoacetate concentration was relatively higher than in fasting. This was consistant with ketosis derived from the hydrolysis of the monoglyceride. It was concluded from these results that monoacetoacetin might be an asset for intravenous nutrition.
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PMID:Intravenous feeding of the rat with short chain fatty acid esters. II. Monoacetoacetin. 41 93

In order to study the effects of infusions of medium-chain triglycerides (MCTs) in newborns (2 to 4 weeks old), we administered these fats to patients requiring short-term (48 h) parenteral nutrition. The regimens provided glucose (10 g.kg-1 B.W..24 h), amino acids (1 g.kg-1 B.W..24 h), and, between 8.00 a.m. and 8.00 p.m. of each day, a 10% fat emulsion (1.5 g triglycerides.kg-1 B.W.). The one group (n = 10) received an emulsion containing long-chain triglycerides (LCTs), while the other group (n = 12) was given an MCT/LCT emulsion. No adverse reaction related to either emulsion occurred. Plasma Na, K, Ca and Cl levels and the capillary gasometry did not change during the trials. Plasma triglycerides, non-esterified fatty acids, and free glycerol were increased immediately at the end of the lipid infusion. Concerning triglycerides and non-esterified fatty acids, the increase was greater with the MCT/LCT emulsion than with the LCT emulsion but all values returned to normal within 12 h after the end of the fat infusion. The blood ketone body concentrations did not change and there was no ketonuria. Under our conditions, the MCT/LCT emulsion maintained the plasma glucose and urea levels better than the LCT emulsion.
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PMID:Medium-chain triglycerides in parenteral nutrition in the newborn: a short-term clinical trial. 313 86

A means for providing total nutrition is described in which 10% soybean oil-eggyolk phosphatide-glycerol emulsion (Intralipid) and a solution of 5% dextrose in 5% protein hydrolysate are given simultaneously into a peripheral vein, utilizing two giving sets united by a Y-connector at the needle. No ketonuria occurred, and there were no side effects from the lipid emulsion. Advantages of this system include absence of significant peripheral phlebitis, avoidance of the hazards of caval catheters, and absence of the complications of hypertonic solutions. Disadvantages include restricted forearm movement and frequent regulation of flow-rates.This system was used in 23 patients for periods of 4 to 78 days (mean 16.3 days). Weight gain and healing occurred, and all survived but one patient who died of myocardial infarction following successful surgical closure of an enterocolocutaneous fistula. The lipid system adds another method to the measures available for the management of major nutritional problems.
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PMID:Total nutrition by peripheral vein--the lipid system. 421 Mar 95

The metabolic response to human growth hormone (HGH) was studied in five obese subjects in the fed state and during prolonged (5-6 wk) starvation. In the fed state (three subjects), HGH induced an elevation in basal serum insulin concentration, a minimal increase in blood and urine ketone levels, and a marked reduction in urinary nitrogen and potassium excretion resulting in positive nitrogen and potassium balance. In prolonged fasting (four subjects), HGH administration resulted in a 2- to 3-fold increase in serum insulin which preceded a 50% elevation in blood glucose. Persistence of the lipolytic effects of HGH was indicated by a rise in free fatty acids and glycerol. The response differed markedly from the fed state in that blood beta-hydroxybutyrate and acetoacetate levels rose by 20-40%, resulting in total blood ketone acid concentrations of 10-12 mmoles/liter, ketonuria of 150-320 mmoles/day, and increased urinary potassium loss. The subjects complained of nausea, vomiting, weakness, and myalgias. Despite a 50% reduction in urea excretion during HGH administration, total nitrogen loss remained unchanged as urinary ammonia excretion rose by 50% and correlated directly with the degree of ketonuria. It is concluded that in prolonged starvation (a) HGH may have a direct insulinotropic effect on the beta cell independent of alterations in blood glucose concentration, (b) persistence of the lipolytic action of HGH results in severe exaggeration of starvation ketosis and interferes with its anticatabolic action by necessitating increased urinary ammonia loss, and (c) failure of HGH to reduce net protein catabolism in starvation suggests that this hormone does not have a prime regulatory role in conserving body protein stores during prolonged fasting.
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PMID:Metabolic response to human growth hormone during prolonged starvation. 554 Jan 76

In metabolically healthy volunteers we investigated the influence of long and medium chained triglycerides on the kinetic of the free fatty acids in blood and on protein metabolism. During a three hour infusion of lipid emulsion (infusion rate 120 mg/kg BW X h) consisting of 50% medium and 50% long chained triglycerides we observed a significant increase of the concentrations of the medium chained free fatty acids (caprylic and capric acid), which decreased down to basic values with a half life of 30 minutes immediately after the infusion period. The total concentration of free fatty acids was higher during the infusion of a MCT/LCT mixture than during the infusion of pure LCT. Glucose infused simultaneously reduced the metabolism of the free fatty acids. MCT induced higher ketonemia and ketonuria than LCT, the ketogenesis could be suppressed by additional glucose. Compared to the glycerol control infusion the total nitrogen excretion was reduced under lipid infusion. Beside the lower excretion of Glu + Gln and Ala the excretion of 3-methylhistidine was reduced, which indicates a decreased on muscle protein turnover as referred to increased free fatty acids and the ketone body concentrations respectively.
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PMID:[Effect of lipid infusions on triglyceride and protein metabolism]. 681 32

A case of liver glycogen storage disease with amylo 1,6-glucosidase deficiency is reported. Enlarged liver was found at birth, and it is now accompanied by splenomegaly, low fasting blood glucose with ketonuria, elevation of transaminase values and glycogen accumulation with connective periportal tissue in liver histological study. In this glucogenosis results of functional tests on carbohidrate metabolism and glycogen enzymatic assay showed a direct relationship between functional and biochemical behaviour of liver cells. Amylo 1,6-glucosidase deficiency is accompanied by absence of glucogenolysis when glucagon is administrated after a long fast, and an increase of blood glucose when glucagon is administrated after food ingestion. Glycolisis tests show blood lactate elevation when some hexose or alanine are administrated; glyconeogenesis tests show blood glucose elevation when hexose, alanine or glycerol are administrated.
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PMID:[Glycogen storage disease by amylo 1,6-glucosidase deficiency (author's transl)]. 693 53

Various metabolic studies were performed in a patient with the idiopathic Fanconi syndrome in whom constant ketonuria suggested that organic acidemia might contribute to the metabolic acidosis. Glucose intolerance with a diminished insulin release was found after PO or IV glucose loads and after glucagon administratio. An insulinopenic "diabetes-like" state has not previously been described in such patients. The patient had impaired galactose-glucose interconversion, elevated blood lactate levels, reduced pyruvate levels, and an increased lactate:pyruvate ratio. Hepatomegaly and hypoglycemia were not present, and liver and muscle biopsies revealed no enzymatic evidence of glycogenosis. The erythrocyte UDP galactose transferase activity was normal. The patient failed to convert fructose to glucose and had a rise in blood lactate after ethanol administration. Further studies revealed no production of glucose after alanine or glycerol administraion, each test being associated with elevated blood lactate levels and, after alanine, an increased lactate:pyruvate ratio. The lactate:pyruvate ratio was elevated after glucagon administration with increased lactate and reduced pyruvate concentrations.
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PMID:Abnormalities of carbohydrate metabolism in idiopathic Fanconi syndrome. 738 41

Two sisters with fructose-1,6-diphosphatase deficiency are reported. They presented with ketonuria, elevated plasma transaminase activity and severe metabolic acidosis during hypoglycaemic crises, which resembled Reye syndrome. Intravenous fructose tolerance tests provoked severe hypoglycaemia and metabolic acidosis. Fructose-1,6-diphosphatase activities in both peripheral leukocytes and cultured lymphocytes were below the limit of detection. Urinary organic acid analysis during crises revealed markedly increased excretion of lactate, ketone bodies, glycerol and glycerol-3-phosphate. We newly identified other glycolytic intermediates, glyceraldehyde, 3-phosphoglycerate and fructose-1,6-diphosphate, in the urine during hypoglycaemic attacks or after fructose tolerance tests. Identification of such compounds may be useful in the early diagnosis of this disease.
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PMID:Urinary sugar phosphates and related organic acids in fructose-1,6-diphosphatase deficiency. 841 1

The activities of either the mitochondrial or cytosolic glycerol phosphate dehydrogenase (mGPD, cGPD) plus that of glycerol kinase are required for the use of glycerol in aerobic metabolism and gluconeogenesis. A knockout mouse lacking mGPD has reduced body weight and fertility but shows remarkably normal liver and muscle metabolite levels. The BALB/cHeA mouse strain, which lacks cGPD, breeds well and is phenotypically normal, although it demonstrates metabolite abnormalities in certain tissues. Crosses were made between these two strains, and mice were generated that lacked both dehydrogenases. These mice, although active and nursing well for several days, failed to grow, and usually died within the first week. Liver glycerol phosphate levels were elevated 30-fold, whereas liver ATP, ADP, and AMP levels were reduced by 30-40%. Plasma glycerol was elevated 30- to 50-fold to 30-50 mm, and urine glycerol exceeded 0.45 m (4% w/v). GPD-deficient mice were hypoglycemic, had a 50% increase in plasma free fatty acids, and developed ketonuria within the first day of life. Uncoupling protein-1 mRNA in brown adipose tissue was reduced 60%. These mice share some features of both glycerol kinase deficiency and hereditary fructose intolerance, suggesting the phenotype may be due to the combined effects of the loss of a gluconeogenic substrate, the osmotic effects of glycerol, and the metabolic effects of the accumulation of a phosphorylated metabolite.
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PMID:Lethal hypoglycemic ketosis and glyceroluria in mice lacking both the mitochondrial and the cytosolic glycerol phosphate dehydrogenases. 1209


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